Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common.
Case Report: We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have a novel SGCE splice site variant.
Discussion: This novel variant is very likely pathogenic by in silico analysis and has not been previously reported. Additionally, her intellectual disability may constitute a novel phenotype for patients with SGCE variants.
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Also Published In
- Tremor and Other Hyperkinetic Movements
More About This Work
- Academic Units
- Center for Parkinson's Disease and Other Movement Disorders
- Published Here
- April 11, 2018